Treacher Collins syndrome: Unmasking the role of Tcof1/treacle

Treacher Collins Syndrome

Treacher Collins syndrome (TCS) is a genetic disease that alters the development of bones and other tissues in the face, and presents variable expressivity. At least three genes TCOF1, POLR1D, and POLR1C were recognized to be at the origin of this syndrome which may be inherited through either an autosomal dominant or autosomal recessive pattern. TCS changes can be divided into otological, opht...

Treacher Collins Syndrome In The Newborn

a b c Dr. Girish Gopal , Dr. Divya Durga , Dr. S. Prashanth Senior Resident, Department of Pediatrics, Mysore Medical College and Research Institute, Mysore -570001, Karnataka. Post graduate student, Department of Pediatrics, Mysore Medical College and Research Institute, Mysore -570001, Karnataka. Assistant Professor, Department of Pediatrics, Mysore Medical College and Research Institute, Mys...

Treacher Collins syndrome: sinus of Valsalva aneurysm.

Orofacial features of Treacher Collins syndrome.

Treacher Collins syndrome (TCS) is a rare autosomal dominant disorder of craniofacial development. Major features include midface hypoplasia, micrognathia, microtia, conductive hearing loss, and cleft palate. The present study is on the orofacial features of 7 Brazilian patients with sporadic TCS aged 4 to 38 years. All patients presented the typical down-slanting palpebral fissures, colobomas,...

Ear surgery in Treacher Collins syndrome.

The autosomal dominant hereditary Treacher Collins syndrome manifests itself phenotypically in dysmorphogenesis of particularly the first, but also the second branchial arch system. Consequently, 50% of patients with Treacher Collins syndrome have a congenital, generally pure conductive hearing loss resulting from a major or minor ear anomaly. The outcome of surgery to improve patients' hearing...